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LOC108254672 CFDP1 intron CAGE-defined high expression enhancer [ Homo sapiens (human) ]

Gene ID: 108254672, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108254672
Gene description
CFDP1 intron CAGE-defined high expression enhancer
Gene type
biological region
Feature type(s)
misc_feature: CAGE_cluster
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic region is located in an intron of the CFDP1 (craniofacial development protein 1) gene. It was defined as a high expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE). It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jun 2016]
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Genomic context

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Location:
16q22.2-q22.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75376607..75377104)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81423381..81423878)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75410505..75411002)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene BCAR1 scaffold protein, Cas family member Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75289517-75290056 Neighboring gene uncharacterized LOC105371344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75290057-75290597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75294897-75295696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75297293-75298090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75298091-75298888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7716 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75305973-75306511 Neighboring gene RNA, U6 small nuclear 758, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75341536-75342036 Neighboring gene craniofacial development protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11129 Neighboring gene small nucleolar RNA SNORA76 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:75465381-75465580 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7719 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75467440-75468007 Neighboring gene tigger transposable element-derived protein 1-like

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • CFDP1 intron high CAGE FANTOM5 enhancer

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051018.1 

    Range
    101..598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    75376607..75377104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    81423381..81423878
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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